MCID: RTN220
MIFTS: 22

Retinal Ciliopathy

Categories: Nephrological diseases, Rare diseases

Aliases & Classifications for Retinal Ciliopathy

MalaCards integrated aliases for Retinal Ciliopathy:

Name: Retinal Ciliopathy 58

Classifications:



External Ids:

Orphanet 58 ORPHA156165

Summaries for Retinal Ciliopathy

MalaCards based summary : Retinal Ciliopathy is related to retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene and retinitis. An important gene associated with Retinal Ciliopathy is IFT140 (Intraflagellar Transport 140), and among its related pathways/superpathways is Organelle biogenesis and maintenance. Affiliated tissues include retina, and related phenotypes are nervous system and vision/eye

Related Diseases for Retinal Ciliopathy

Diseases in the Retinal Ciliopathy family:

Retinal Ciliopathy Due to Mutation in Nephronophthisis Gene Retinal Ciliopathy Due to Mutation in Bardet-Biedl Gene
Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1 Gene Retinal Ciliopathy Due to Mutation in the Rpgr Gene
Retinal Ciliopathy Due to Mutation in the Rpgrip Gene Retinal Ciliopathy Due to Mutation in Usher Gene

Diseases related to Retinal Ciliopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 93)
# Related Disease Score Top Affiliating Genes
1 retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene 34.2 LOC105371046 IFT140
2 retinitis 30.8 RPGRIP1 RPGR RP1
3 yemenite deaf-blind hypopigmentation syndrome 30.7 RPGR CEP290
4 retinal disease 29.8 RPGRIP1 RPGR CEP290
5 retinitis pigmentosa 1 29.8 RPGR RP1 LOC105371046 IFT140
6 leber congenital amaurosis 3 29.7 SPATA7 RPGRIP1 CEP290
7 cranioectodermal dysplasia 1 29.5 RPGR IQCB1 IFT140 CEP290
8 primary ciliary dyskinesia 29.5 RPGRIP1 RPGR IFT140 CEP290
9 retinal degeneration 29.4 SPATA7 RPGRIP1 RPGR RP1 IFT140 CEP290
10 nephronophthisis 28.9 RPGRIP1 RPGR IQCB1 INPP5E IFT140 CEP290
11 bardet-biedl syndrome 28.5 SPATA7 RPGRIP1 RPGR IQCB1 INPP5E IFT140
12 leber plus disease 28.2 SPATA7 RPGRIP1 RPGR POC1B IQCB1 IFT140
13 cone-rod dystrophy 2 28.2 RPGRIP1 RPGR POC1B PDE6D IQCB1 CEP290
14 senior-loken syndrome 1 27.7 SPATA7 RPGRIP1 RPGR POC1B IQCB1 IFT140
15 inherited retinal disorder 27.2 SPATA7 RPGRIP1 RPGR RP1 KIF11 IQCB1
16 joubert syndrome 1 26.9 SPATA7 RPGRIP1 RPGR POC1B PDE6D IQCB1
17 retinitis pigmentosa 26.4 SPATA7 RPGRIP1 RPGR RP1 POC1B PDE6D
18 fundus dystrophy 25.6 SPATA7 RPGRIP1 RPGR RP1 POC1B PDE6D
19 retinal ciliopathy due to mutation in nephronophthisis gene 12.3
20 retinal ciliopathy due to mutation in bardet-biedl gene 12.3
21 retinal ciliopathy due to mutation in the rpgr gene 12.3
22 retinal ciliopathy due to mutation in the rpgrip gene 12.3
23 retinal ciliopathy due to mutation in usher gene 12.3
24 ciliopathy 10.6
25 neuroretinitis 10.4
26 joubert syndrome with jeune asphyxiating thoracic dystrophy 10.4 LOC105371046 IFT140
27 retinitis pigmentosa 80 10.4 LOC105371046 IFT140
28 cone-rod dystrophy 1 10.3 RPGRIP1 RPGR
29 retinitis pigmentosa 40 10.3 RPGR IFT140
30 retinitis pigmentosa 34 10.3 RPGRIP1 RPGR
31 optic disk drusen 10.3 RPGRIP1 RPGR
32 nephronophthisis 19 10.2 RPGR CEP290
33 joubert syndrome 7 10.2 RPGRIP1 CEP290
34 retinitis pigmentosa-deafness syndrome 10.2
35 macular degeneration, age-related, 1 10.2
36 usher syndrome 10.2
37 renal dysplasia, cystic 10.2 INPP5E CEP290
38 retinal aplasia 10.2 IQCB1 CEP290
39 choroid disease 10.1 RPGR CEP290
40 leber congenital amaurosis 13 10.1 SPATA7 RPGRIP1
41 nephronophthisis 11 10.1 IQCB1 CEP290
42 leber congenital amaurosis 5 10.1 SPATA7 RPGRIP1
43 nephronophthisis 12 10.1 IQCB1 CEP290
44 asphyxiating thoracic dystrophy 10.1 LOC105371046 IFT140 CEP290
45 nephronophthisis 7 10.1 IQCB1 CEP290
46 cone dystrophy 10.1
47 alstrom syndrome 10.1 RPGR CEP290
48 nephronophthisis 16 10.1 IQCB1 CEP290
49 nephronophthisis 14 10.1 IQCB1 CEP290
50 renal-hepatic-pancreatic dysplasia 10.0 IQCB1 CEP290

Graphical network of the top 20 diseases related to Retinal Ciliopathy:



Diseases related to Retinal Ciliopathy

Symptoms & Phenotypes for Retinal Ciliopathy

MGI Mouse Phenotypes related to Retinal Ciliopathy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.56 CEP290 IFT140 INPP5E PDE6D RP1 RPGR
2 vision/eye MP:0005391 9.23 CEP290 IFT140 INPP5E PDE6D RP1 RPGR

Drugs & Therapeutics for Retinal Ciliopathy

Search Clinical Trials , NIH Clinical Center for Retinal Ciliopathy

Genetic Tests for Retinal Ciliopathy

Anatomical Context for Retinal Ciliopathy

MalaCards organs/tissues related to Retinal Ciliopathy:

40
Retina

Publications for Retinal Ciliopathy

Articles related to Retinal Ciliopathy:

(show all 24)
# Title Authors PMID Year
1
Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy. 61
32386558 2020
2
Disrupted Plasma Membrane Protein Homeostasis in a Xenopus Laevis Model of Retinitis Pigmentosa. 61
31061086 2019
3
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy. 61
31253780 2019
4
AON-Mediated Exon Skipping to Bypass Protein Truncation in Retinal Dystrophies Due to the Recurrent CEP290 c.4723A > T Mutation. Fact or Fiction? 61
31091803 2019
5
SANS (USH1G) Molecularly Links the Human Usher Syndrome Protein Network to the Intraflagellar Transport Module by Direct Binding to IFT-B Proteins. 61
31637240 2019
6
661W Photoreceptor Cell Line as a Cell Model for Studying Retinal Ciliopathies. 61
31024622 2019
7
A Combined in silico, in vitro and Clinical Approach to Characterize Novel Pathogenic Missense Variants in PRPF31 in Retinitis Pigmentosa. 61
30967900 2019
8
IFT52 as a Novel Candidate for Ciliopathies Involving Retinal Degeneration. 61
30242358 2018
9
Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal Ciliopathy. 61
28785766 2017
10
Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5E. 61
28172980 2016
11
Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapies. 61
27911706 2016
12
RPGR, a prenylated retinal ciliopathy protein, is targeted to cilia in a prenylation- and PDE6D-dependent manner. 61
27493202 2016
13
Stem cells with a view: a look inside a retinal ciliopathy. 61
27868044 2016
14
C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium. 61
26294103 2015
15
Knockdown of poc1b causes abnormal photoreceptor sensory cilium and vision impairment in zebrafish. 61
26188096 2015
16
A novel function of Huntingtin in the cilium and retinal ciliopathy in Huntington's disease mice. 61
25989602 2015
17
Ablation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary composition. 61
26068394 2015
18
Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina. 61
25398945 2015
19
Renal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signaling. 61
24722439 2014
20
Mutation of POC1B in a severe syndromic retinal ciliopathy. 61
25044745 2014
21
Loss of Raf-1 kinase inhibitory protein delays early-onset severe retinal ciliopathy in Cep290rd16 mouse. 61
25125607 2014
22
FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies. 61
22940612 2012
23
Non-syndromic retinal ciliopathies: translating gene discovery into therapy. 61
22843501 2012
24
Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy. 61
21245082 2011

Variations for Retinal Ciliopathy

Expression for Retinal Ciliopathy

Search GEO for disease gene expression data for Retinal Ciliopathy.

Pathways for Retinal Ciliopathy

Pathways related to Retinal Ciliopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.75 PDE6D IQCB1 INPP5E IFT140 CEP290

GO Terms for Retinal Ciliopathy

Cellular components related to Retinal Ciliopathy according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.19 SPATA7 RPGR RP1 POC1B PDE6D KIF11
2 centrosome GO:0005813 9.88 RPGR POC1B IQCB1 IFT140 CEP290
3 microtubule organizing center GO:0005815 9.85 RPGR POC1B IQCB1 IFT140 CEP290
4 cell projection GO:0042995 9.81 SPATA7 RPGRIP1 RPGR RP1 POC1B PDE6D
5 ciliary basal body GO:0036064 9.8 SPATA7 RPGR POC1B IFT140 CEP290
6 cilium GO:0005929 9.8 RPGRIP1 RPGR RP1 PDE6D INPP5E IFT140
7 axoneme GO:0005930 9.77 SPATA7 RPGRIP1 RP1 INPP5E IFT140
8 centriole GO:0005814 9.73 POC1B IQCB1 IFT140 CEP290
9 photoreceptor outer segment GO:0001750 9.72 SPATA7 RPGR RP1 IQCB1 IFT140
10 cytoskeleton GO:0005856 9.65 SPATA7 RPGR RP1 POC1B PDE6D KIF11
11 ciliary tip GO:0097542 9.52 RP1 IFT140
12 non-motile cilium GO:0097730 9.51 RPGRIP1 IFT140
13 photoreceptor connecting cilium GO:0032391 9.1 SPATA7 RPGRIP1 RP1 IQCB1 IFT140 CEP290

Biological processes related to Retinal Ciliopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.72 SPATA7 RPGRIP1 RPGR RP1 PDE6D
2 visual perception GO:0007601 9.55 SPATA7 RPGRIP1 RPGR RP1 PDE6D
3 intraciliary transport GO:0042073 9.43 RPGR IFT140
4 photoreceptor cell maintenance GO:0045494 9.43 SPATA7 RP1 IQCB1
5 eye photoreceptor cell development GO:0042462 9.4 RPGRIP1 CEP290
6 photoreceptor cell outer segment organization GO:0035845 9.37 RP1 IFT140
7 cilium assembly GO:0060271 9.35 RPGR POC1B IQCB1 IFT140 CEP290
8 cell projection organization GO:0030030 9.1 RPGR RP1 POC1B IQCB1 IFT140 CEP290

Sources for Retinal Ciliopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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